Coenzyme Q(10) partially restores pathological alterations in a macrophage model of Gaucher disease

BACKGROUND: Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids glucosylceramide (GlcCer) and glucosylsphingosine in the lysosomes of macrophage...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: de la Mata, Mario, Cotán, David, Oropesa-Ávila, Manuel, Villanueva-Paz, Marina, de Lavera, Isabel, Álvarez-Córdoba, Mónica, Luzón-Hidalgo, Raquel, Suárez-Rivero, Juan M., Tiscornia, Gustavo, Sánchez-Alcázar, José A.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5292786/
https://ncbi.nlm.nih.gov/pubmed/28166796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0574-8
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